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TTCTACAGGAGCAATGAGGATGGCA[C/T]GTGAGTCACTGCCATCAGGGCTGTT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CPNE9 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
CPNE9 - copine family member 9 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308388.1 | 892 | Missense Mutation | ACG,ATG | T,M 182 | NP_001295317.1 | |
NM_153635.2 | 892 | Missense Mutation | ACG,ATG | T,M 182 | NP_705899.2 | |
XM_011533386.2 | 892 | Missense Mutation | ACG,ATG | T,M 291 | XP_011531688.1 | |
XM_011533388.2 | 892 | Missense Mutation | ACG,ATG | T,M 291 | XP_011531690.1 | |
XM_011533389.2 | 892 | Missense Mutation | ACG,ATG | T,M 291 | XP_011531691.1 | |
XM_017005747.1 | 892 | UTR 5 | XP_016861236.1 |